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AARS2

alanyl-tRNA synthetase 2, mitochondrial

gene with protein productOMIM: 6120353 заболевания
GeneCards ↗Open Targets ↗NCBI Gene ↗OMIM ↗

Ассоциированные заболевания

Disease-causing germline mutation(s) (loss of function) in2
Adult-onset leukoencephalopathy with axonal spheroids and pigmented gliaORPHA:313808
→
OvarioleukodystrophyORPHA:99853
→
Герминативная мутация (причина)1
Combined oxidative phosphorylation defect type 8ORPHA:319504
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Данные: Orphadata (CC-BY-4.0)